Varaico: Literature-Extracted Genetic Variants

Gene:KCNA2
Variant:p.R82C

KCNA2

401 papers

RefSeq Summary

Potassium channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, ...

Pfam Domains

BTB_2aa 35–126UCSCBTB/POZ domain
Ion_transaa 162–421UCSCIon transport protein

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily A member 2

HGNC Alias Symbols

Kv1.2; HK4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_004974.4
p.R82C
c.244C>T
Surrounding Variants
1 paper
NM_004974.4
p.R82L
c.245G>T
1 paper
NM_004974.4
p.R82H
c.245G>A
1 paper
NM_004974.4
p.N81I
c.242A>T
1 paper
NM_004974.4
p.P83L
c.248C>T
1 paper
NM_004974.4
p.R80Q
c.239G>A
1 paper
NM_004974.4
p.R80W
c.238C>T
1 paper
NM_004974.4
p.D79A
c.236A>C
2 papers
NM_004974.4
p.D79H
c.235G>C
3 papers
NM_004974.4
p.D79N
c.235G>A
1 paper
NM_004974.4
p.D86N
c.256G>A
1 paper
NM_004974.4
p.D86A
c.257A>C
1 paper
NM_004974.4
p.F85_D86delFs
c.255_258del4
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."